Compounds > phenylalanine

phenylalanine and Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

phenylalanine has been researched along with Charcot-Marie-Tooth Disease, Demyelinating, Type 4f in 4 studies

Research

Studies (4)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (50.00)18.2507
2000's1 (25.00)29.6817
2010's1 (25.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Dadali, EL; Fedotov, VP; Poliakov, AV; Shagina, OA; Tiburkova, TB1
Hayasaka, K; Ikeda, H; Ikegami, T; Ishida, A; Johnston, H; Nicholson, G; Ouvrier, R; Wise, G2
Baklan, B; Cakmur, R; Genç, A; Guiochon-Mantel, A; Kovanlikaya, I; Obuz, F; Oztürk, V; Yener, GG1

Other Studies

4 other study(ies) available for phenylalanine and Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

ArticleYear
[Hereditary motor and sensory neuropathy type 4A].
    Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova, 2010, Volume: 110, Issue:5 Pt 1

    Topics: Adolescent; Adult; Amino Acid Substitution; Child; Child, Preschool; DNA; Female; Hereditary Sensory and Motor Neuropathy; Humans; Leucine; Male; Mutation; Nerve Tissue Proteins; Phenylalanine; Russia; Young Adult

2010
A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III).
    Biochemical and biophysical research communications, 1996, May-06, Volume: 222, Issue:1

    Topics: Base Sequence; DNA Primers; Female; Hereditary Sensory and Motor Neuropathy; Humans; Male; Molecular Sequence Data; Myelin P0 Protein; Pedigree; Phenylalanine; Sequence Deletion

1996
De novo mutation of the myelin Po gene in Déjérine-Sottas disease (hereditary motor and sensory neuropathy type III): two amino acid insertion after Asp 118.
    Human mutation, 1998, Volume: Suppl 1

    Topics: Alleles; Amino Acid Sequence; Base Sequence; DNA; DNA Mutational Analysis; Family Health; Fatal Outcome; Female; Hereditary Sensory and Motor Neuropathy; Humans; Infant; Male; Mutagenesis, Insertional; Mutation; Myelin P0 Protein; Pedigree; Phenylalanine; Polymerase Chain Reaction; Tyrosine

1998
Phe 84 deletion of the PMP22 gene associated with hereditary motor and sensory neuropathy HMSN III with multiple cranial neuropathy: clinical, neurophysiological and magnetic resonance imaging findings.
    Journal of neurology, 2001, Volume: 248, Issue:3

    Topics: Adult; Cranial Nerve Diseases; Hereditary Sensory and Motor Neuropathy; Humans; Magnetic Resonance Imaging; Male; Myelin Proteins; Phenylalanine; Sequence Deletion

2001